| CASE REPORT |
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| Year : 2023 | Volume
: 3
| Issue : 2 | Page : 396-398 |
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A rare combination: Bardet–Biedl syndrome with atypical retinitis pigmentosa and optic disc drusen
Gulshan Barwar1, Swapnil M Parchand1, Anil B Gangwe1, Deepshikha Agrawal2
1 Department of Vitreo-Retina Services, MGM Eye Institute, Raipur, Chhattisgarh, India
2 Department of Cornea and Anterior Segment Services, MGM Eye Institute, Raipur, Chhattisgarh, India
Correspondence Address:
Gulshan Barwar
5th Mile, Vidhan Sabha Road, Saddu, MGM Eye Institute, Raipur - 493 111, Chhattisgarh
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/ijo.IJO_1904_22
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A 19-year-old male presented with night blindness and gradual diminution of vision since 5 years. Clinical examination and investigations revealed bilateral atypical retinitis pigmentosa (punctata albescens) with foveal atrophy and optic disc drusen. On general examination, patient had central obesity, post-axial polydactyly and brachydactyly in upper and lower limbs, hypogonadism, cognitive deficit, and speech impairment, which were suggestive of Bardet–Biedl syndrome. This is a rare case of Bardet–Biedl syndrome with atypical retinitis pigmentosa (punctata albescens) and bilateral optic disc drusen.
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